Details for FZD6:c.544G>A, p.Ala182Thr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
104336878103324650
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE FZD6
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_003506.4
CDNA CHANGE c.544G>A
PROTEIN CHANGE p.Ala182Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00041380.00012340.00011570.00.00.00.00080920.00097910.0

ESP
AAEA
0.00.001628
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.698368Polymorphism
DBSNP ID rs147788385
1 combination linked to FZD6:c.544G>A, p.Ala182Thr OLI712
1 disease linked to FZD6:c.544G>A, p.Ala182Thr Isolated anencephaly
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